Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000992253 | SCV001144383 | pathogenic | not provided | 2020-06-17 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population is consistent with pathogenicity. Predicted to have a damaging effect on the protein. This variant is statistically more frequent in affected individuals than in the general population and/or healthy controls. Assessment of experimental evidence suggests this variant results in abnormal protein function. |
Genome- |
RCV000009213 | SCV001810482 | pathogenic | Hyperinsulinemic hypoglycemia, familial, 2 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002226642 | SCV002505435 | uncertain significance | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. It is also associated with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of rs104894248 variant in MODY yet. | |
Mendelics | RCV002247279 | SCV002516597 | pathogenic | Type 2 diabetes mellitus | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002247279 | SCV004198055 | likely pathogenic | Type 2 diabetes mellitus | 2024-02-29 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000009213 | SCV000029431 | pathogenic | Hyperinsulinemic hypoglycemia, familial, 2 | 2005-09-01 | no assertion criteria provided | literature only |